Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Noam Shimshoviz"'
Autor:
Ben Pode-Shakked, Ortal Barel, Amihood Singer, Miriam Regev, Hana Poran, Aviva Eliyahu, Yael Finezilber, Meirav Segev, Michal Berkenstadt, Hagith Yonath, Haike Reznik-Wolf, Yael Gazit, Odelia Chorin, Gali Heimer, Lidia V. Gabis, Michal Tzadok, Andreea Nissenkorn, Omer Bar-Yosef, Efrat Zohar-Dayan, Bruria Ben-Zeev, Nofar Mor, Nitzan Kol, Omri Nayshool, Noam Shimshoviz, Ifat Bar-Joseph, Dina Marek-Yagel, Elisheva Javasky, Reviva Einy, Moran Gal, Julia Grinshpun-Cohen, Mordechai Shohat, Dan Dominissini, Annick Raas-Rothschild, Gideon Rechavi, Elon Pras, Lior Greenbaum
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)
Abstract Exome sequencing (ES) is an important diagnostic tool for individuals with neurodevelopmental disorders (NDD) and/or multiple congenital anomalies (MCA). However, the cost of ES limits the test's accessibility for many patients. We evaluated
Externí odkaz:
https://doaj.org/article/e733bb6318cd4cbcadc0d78a11b7a3cd
Autor:
Lior Greenbaum, Merav Ben‐David, Vera Nikitin, Orna Gera, Ortal Barel, Adi Hersalis‐Eldar, Jana Shamash, Noam Shimshoviz, Haike Reznik‐Wolf, Mordechai Shohat, Dan Dominissini, Elon Pras, Amir Dori
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 6, Pp 1260-1268 (2021)
Abstract Objective Mutations in the HSPB1 gene are associated with a distal hereditary motor neuropathy type 2 (dHMN2) or Charcot‐Marie‐Tooth disease type 2F (CMT2F), usually with autosomal dominant inheritance. This study aimed to describe the p
Externí odkaz:
https://doaj.org/article/dd5597ef35844c088b00410a5cdcd5a6
Autor:
Odelia Chorin, Amihood Singer, Aviva Eliyahu, Mordechai Shohat, Dan Dominissini, Annick Raas-Rothschild, Moran Gal, Gideon Rechavi, Andreea Nissenkorn, Hana Poran, Julia Grinshpun-Cohen, Michal Berkenstadt, Yael Gazit, Lidia V. Gabis, Yael Finezilber, Bruria Ben-Zeev, Noam Shimshoviz, Hagith Yonath, Omri Nayshool, Elon Pras, Nofar Mor, Reviva Einy, Efrat Zohar-Dayan, Miriam Regev, Michal Tzadok, Haike Reznik-Wolf, Ben Pode-Shakked, Elisheva Javasky, Ortal Barel, Lior Greenbaum, Dina Marek-Yagel, Ifat Bar-Joseph, Meirav Segev, Nitzan Kol, Gali Heimer, Omer Bar-Yosef
Publikováno v:
Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)
Scientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)
Exome sequencing (ES) is an important diagnostic tool for individuals with neurodevelopmental disorders (NDD) and/or multiple congenital anomalies (MCA). However, the cost of ES limits the test's accessibility for many patients. We evaluated the yiel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d5f147b62e189389a2194182b3c7132
http://europepmc.org/articles/PMC8476634
http://europepmc.org/articles/PMC8476634